Verrucous epidermal nevus as a manifestation of a type 2 mosaic PTEN mutation in Cowden syndrome

por Plana‐Pla, Adrià, Condal, Laura, Jaka, Ane, Blanco, Ignacio, Castellanos, Elisabeth, Bielsa, Isabel
Publicado 2022

CNVfilteR: an R/Bioconductor package to identify false positives produced by germline NGS CNV detection tools

por Moreno-Cabrera, José Marcos, del Valle, Jesús, Castellanos, Elisabeth, Feliubadaló, Lidia, Pineda, Marta, Serra, Eduard, Capellá, Gabriel, Lázaro, Conxi, Gel, Bernat
Publicado 2021

Antisense oligonucleotides targeting exon 11 are able to partially rescue the NF2-related schwannomatosis phenotype in vitro

por Catasús, Núria, Rosas, Inma, Bonache, Sandra, Negro, Alex, Torres-Martin, Miguel, Plana-Pla, Adrià, Salvador, Hector, Serra, Eduard, Blanco, Ignacio, Castellanos, Elisabeth
Publicado 2022

Evaluation of CNV detection tools for NGS panel data in genetic diagnostics

por Moreno-Cabrera, José Marcos, del Valle, Jesús, Castellanos, Elisabeth, Feliubadaló, Lidia, Pineda, Marta, Brunet, Joan, Serra, Eduard, Capellà, Gabriel, Lázaro, Conxi, Gel, Bernat
Publicado 2020

The vestibular calyceal junction is dismantled following subchronic streptomycin in rats and sensory epithelium stress in humans

por Maroto, Alberto F., Borrajo, Mireia, Prades, Sílvia, Callejo, Àngela, Amilibia, Emilio, Pérez-Grau, Marta, Roca-Ribas, Francesc, Castellanos, Elisabeth, Barrallo-Gimeno, Alejandro, Llorens, Jordi
Publicado 2023

Segmental neurofibromatosis type 2: discriminating two hit from four hit in a patient presenting multiple schwannomas confined to one limb

por Castellanos, Elisabeth, Bielsa, Isabel, Carrato, Cristina, Rosas, Imma, Solanes, Ares, Hostalot, Cristina, Amilibia, Emilio, Prades, José, Roca-Ribas, Francesc, Lázaro, Conxi, Blanco, Ignacio, Serra, Eduard
Publicado 2015

Using antisense oligonucleotides for the physiological modulation of the alternative splicing of NF1 exon 23a during PC12 neuronal differentiation

por Biayna, Josep, Mazuelas, Helena, Gel, Bernat, Terribas, Ernest, Dumbovic, Gabrijela, Rosas, Inma, Fernández-Rodriguez, Juana, Blanco, Ignacio, Castellanos, Elisabeth, Carrió, Meritxell, Lazaro, Conxi, Serra, Eduard
Publicado 2021

Reprogramming Captures the Genetic and Tumorigenic Properties of Neurofibromatosis Type 1 Plexiform Neurofibromas

por Carrió, Meritxell, Mazuelas, Helena, Richaud-Patin, Yvonne, Gel, Bernat, Terribas, Ernest, Rosas, Imma, Jimenez-Delgado, Senda, Biayna, Josep, Vendredy, Leen, Blanco, Ignacio, Castellanos, Elisabeth, Lázaro, Conxi, Raya, Ángel, Serra, Eduard
Publicado 2019

Reprogramming Captures the Genetic and Tumorigenic Properties of Neurofibromatosis Type 1 Plexiform Neurofibromas

por Carrió, Meritxell, Mazuelas, Helena, Richaud-Patin, Yvonne, Gel, Bernat, Terribas, Ernest, Rosas, Imma, Jimenez-Delgado, Senda, Biayna, Josep, Vendredy, Leen, Blanco, Ignacio, Castellanos, Elisabeth, Lázaro, Conxi, Raya, Ángel, Serra, Eduard
Publicado 2019

A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape

por Castellanos, Elisabeth, Gel, Bernat, Rosas, Inma, Tornero, Eva, Santín, Sheila, Pluvinet, Raquel, Velasco, Juan, Sumoy, Lauro, del Valle, Jesús, Perucho, Manuel, Blanco, Ignacio, Navarro, Matilde, Brunet, Joan, Pineda, Marta, Feliubadaló, Lidia, Capellá, Gabi, Lázaro, Conxi, Serra, Eduard
Publicado 2017

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer

por Feliubadaló, Lídia, Tonda, Raúl, Gausachs, Mireia, Trotta, Jean-Rémi, Castellanos, Elisabeth, López-Doriga, Adriana, Teulé, Àlex, Tornero, Eva, del Valle, Jesús, Gel, Bernat, Gut, Marta, Pineda, Marta, González, Sara, Menéndez, Mireia, Navarro, Matilde, Capellá, Gabriel, Gut, Ivo, Serra, Eduard, Brunet, Joan, Beltran, Sergi, Lázaro, Conxi
Publicado 2017

Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis

por Magallón-Lorenz, Miriam, Terribas, Ernest, Ortega-Bertran, Sara, Creus-Bachiller, Edgar, Fernández, Marco, Requena, Gerard, Rosas, Inma, Mazuelas, Helena, Uriarte-Arrazola, Itziar, Negro, Alex, Lausová, Tereza, Castellanos, Elisabeth, Blanco, Ignacio, DeVries, George, Kawashima, Hiroyuki, Legius, Eric, Brems, Hilde, Mautner, Viktor, Kluwe, Lan, Ratner, Nancy, Wallace, Margaret, Fernández-Rodriguez, Juana, Lázaro, Conxi, Fletcher, Jonathan A., Reuss, David, Carrió, Meritxell, Gel, Bernat, Serra, Eduard
Publicado 2023